Guntram Borck
7PUBLICATIONS
20CO-AUTHORS
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Publications (7)
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|Feb 22, 2018
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.Fanny Kortüm, Rami Abou Jamra, Malik Alawi
|Feb 13, 2018
A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome.Farooq Ahmad, Abdul Nasir, Holger Thiele
|Dec 23, 2017
Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies.Naseebullah Kakar, Denise Horn, Eva Decker
|Nov 22, 2017
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.Rüstem Yilmaz, Katalin Szakszon, Anna Altmann
|Nov 02, 2017
Mutations of PTPN23 in developmental and epileptic encephalopathy.Nadine Sowada, Mais Omar Hashem, Rüstem Yilmaz
|May 26, 2017
4.7 Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood.Harald Gaspar, Bernd Lutz, Kerstin Reicherter
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Frequent Collaborators
1 joint publications
Verneri Anttila
1 joint publications
Tonu Esko
1 joint publications
Mikko Muona
1 joint publications
Caroline Ran
1 joint publications
Hieab H H Adams
1 joint publications
Hailiang Huang
1 joint publications
Lude Franke
1 joint publications
Christopher S Nielsen
1 joint publications
Lili Milani
1 joint publications
Thomas Folkmann Hansen
